ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)

gnomAD frequency: 0.00001  dbSNP: rs146278035
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146051 SCV000193206 pathogenic Bilateral frontoparietal polymicrogyria 2013-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624486 SCV000741122 pathogenic Inborn genetic diseases 2015-11-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000146051 SCV001429594 likely pathogenic Bilateral frontoparietal polymicrogyria 2019-02-08 criteria provided, single submitter clinical testing
Invitae RCV001389682 SCV001591132 pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg96*) in the ADGRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). This variant is present in population databases (rs146278035, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ADGRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 158629). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV001389682 SCV003831675 likely pathogenic not provided 2022-03-23 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000146051 SCV004171936 likely pathogenic Bilateral frontoparietal polymicrogyria criteria provided, single submitter clinical testing The stop gained c.286C>T(p.Arg96Ter) variant in ADGRG1 gene has been reported previously in ClinVar database as Likely pathogenic/Pathogenic (multiple submissions). The variant is reported with an allele frequency of 0.0004% in the gnomAD exomes database and is novel (not in any individuals) in 1000 Genomes database. The nucleotide change c.286C>T in ADGRG1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. Functional studies are required to prove pathogenicity of the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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